ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
JARID2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
215 | 248 | |
ATXN1 | - | - |
GRCh38 GRCh37 |
95 | 153 | |
CAP2 | - | - |
GRCh38 GRCh37 |
31 | 58 | |
CD83 | - | - |
GRCh38 GRCh37 |
14 | 43 | |
DTNBP1 | - | - |
GRCh38 GRCh37 |
280 | 324 | |
FAM8A1 | - | - |
GRCh38 GRCh37 |
15 | 39 | |
GFOD1 | - | - |
GRCh38 GRCh37 |
10 | 40 | |
GMPR | - | - |
GRCh38 GRCh37 |
31 | 54 | |
KIF13A | - | - |
GRCh38 GRCh37 |
101 | 119 | |
MCUR1 | - | - |
GRCh38 GRCh37 |
13 | 57 |
There are 10 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 23, 2018 | RCV000849796.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022